Charlotte Boussard
Paris, France
Last Updated: 09/26/2026
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Found 14 publications
In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.
Journal: EMBO molecular medicine
Published: April 09, 2025
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.
Journal: The Journal of experimental medicine
Published: May 14, 2024
Cell architecture defect and autoimmunity: DOCK11 deficiency
Journal: Medecine sciences : M/S
Published: March 23, 2024
Allogeneic bone marrow transplantation in craniometaphyseal dysplasia.
Journal: Lancet (London, England)
Published: January 12, 2024
Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response.
Journal: Cell reports. Medicine
Published: May 17, 2023
Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency.
Journal: The Journal of clinical investigation
Published: March 07, 2023
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Journal: Blood
Published: October 11, 2022
Sustained remission after haploidentical bone marrow transplantation in a child with refractory systemic juvenile idiopathic arthritis.
Journal: Pediatric rheumatology online journal
Published: October 06, 2020
Cardiac valve involvement in ADAR-related type I interferonopathy.
Journal: Journal of medical genetics
Published: July 24, 2019
Artificial intelligence outperforms experienced nephrologists to assess dry weight in pediatric patients on chronic hemodialysis.
Journal: Pediatric nephrology (Berlin, Germany)
Published: February 18, 2018
Last Updated: 09/26/2026